Polygenic Score (PGS) ID: PGS000681

Predicted Trait
Reported Trait Direct bilirubin [umol/L]
Mapped Trait(s) bilirubin measurement (EFO_0004570)
Released in PGS Catalog: Feb. 3, 2021
Download Score FTP directory
Terms and Licenses
Creative Commons Attribution 4.0 International (CC BY 4.0)

Score Details

Score Construction
PGS Name snpnet.Direct_bilirubin
Variants
Original Genome Build hg19
Number of Variants 3,104
Development Method
Name snpnet
Parameters 1,080,968 variants as input (directly genotyped variants, imputed HLA allelotypes, and CNVs)
PGS Source
PGS Catalog Publication (PGP) ID PGP000128
Citation (link to publication) Sinnott-Armstrong N et al. Nat Genet (2021)
Ancestry Distribution
Score Development/Training
European: 100%
255,256 individuals (100%)
PGS Evaluation
European: 40%
African: 20%
East Asian: 20%
South Asian: 20%
5 Sample Sets

Development Samples

Score Development/Training
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
223,327 individuals European
(British)
UKB Training
31,929 individuals European
(British)
UKB Validation

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM)
PGS Sample Set ID
(PSS)
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM001549 PSS000688|
European Ancestry|
54,161 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Direct bilirubin [umol/L] : 0.34294
Spearman's ρ: 0.46
Age, sex, PCs(1-40)
PPM001514 PSS000687|
South Asian Ancestry|
6,088 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Direct bilirubin [umol/L] : 0.3015
Spearman's ρ: 0.452
Age, sex, PCs(1-40)
PPM001479 PSS000686|
European Ancestry|
20,094 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Direct bilirubin [umol/L] : 0.33072
Spearman's ρ: 0.453
Age, sex, PCs(1-40)
PPM001444 PSS000685|
East Asian Ancestry|
915 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Direct bilirubin [umol/L] : 0.15786
Spearman's ρ: 0.291
Age, sex, PCs(1-40)
PPM001409 PSS000684|
African Ancestry|
5,007 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Direct bilirubin [umol/L] : 0.27938
Spearman's ρ: 0.469
Age, sex, PCs(1-40)

Evaluated Samples

PGS Sample Set ID
(PSS)
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000684 5,007 individuals African unspecified UKB
PSS000685 915 individuals East Asian UKB
PSS000686 20,094 individuals European Non-British White UKB
PSS000687 6,088 individuals South Asian UKB
PSS000688 54,161 individuals European
(British)
UKB